With
$3.14 million in funding just awarded by the National Institutes of
Health, UIC researchers are developing a powerful new prenatal diagnostic
technique for detecting genetic abnormalities in the DNA of fetal blood
cells found in the mother's bloodstream.

Investigations
to date have focused on identifying instances of too many or too few
chromosomes, causing birth defects such as Down syndrome, Turner syndrome
and Trisomy 13.

In
the new study, researchers in the UIC College of Medicine will also
investigate a technique for identifying defects in individual genes
within the chromosomes. Such defects can lead to serious disorders,
including cystic fibrosis, sickle-cell anemia and Tay-Sachs disease.

Dr.
Sherman Elias, head of the department of obstetrics and gynecology,
will lead the study at UIC, in collaboration with Dr. Ronald Hoffman,
chief of hematology/oncology. In 1991, Elias and a team of researchers
were the first to demonstrate that genetic defects in the fetus could
be identified in fetal cells isolated from maternal blood by a technique
called fluorescent in-situ hybridization, or FISH, in which the cells'
chromosomes were tagged with material that glows when fluorescently
lit under a microscope. The team was able to identify aberrant numbers
of the X and Y chromosomes and chromosomes 13, 18 and 21, which account
for 90 percent of birth defects caused by chromosomal abnormalities.

With
the new funding from the National Institute of Child Health and Human
Development, the UIC researchers are now refining the FISH technique
and methods for recovering the few fetal blood cells that trickle through
the placenta into the mother's circulation. They will also expand their
research into "culturing," or multiplying in the laboratory, these rare
fetal cells found in the mother's blood. Culturing will enable the researchers
to obtain enough DNA to conduct complete chromosomal studies and to
try to detect mutations in single genes.

Prenatal
diagnosis using fetal blood cells offers distinct advantages over the
two current methods, amniocentesis and chorionic villus sampling (CVS).
Both amniocentesis and CVS carry a small but real increased risk of
miscarriage, about 0.5 to 1 percent. The new test would require only
a routine blood sample from the mother and thus presents no risk to
the developing fetus. Consequently, it could potentially be used by
all women who wish to undergo the screening.

"Our
goal is to find an accurate, safe and cost-effective means of prenatal
diagnosis for all pregnant women," Elias said. "This in turn will increase
opportunities for fetal therapy of single-gene disorders, including
those causing developmental disabilities."

To
test the accuracy of the technique, results for each blood sample will
be compared with findings from amniocentesis or CVS. Because the technique
is still in the research phase, none of the information in the study
will be provided to patients or physicians for pregnancy management
decisions.

UIC's
funding for the study is part of a larger program supported by NIH with
researchers at Baylor College of Medicine; DM-STAT, a statistics company
in Boston; Thomas Jefferson Medical School; Tufts Medical School; the
University of Basel in Switzerland; and Wayne State University. Meeting
regularly, the institutions will work closely to develop collaborative
methods that use a centralized system for data collection and analysis
and will publish results jointly.

The
UIC College of Medicine is the nation's largest medical school. One
out of six Illinois doctors is a graduate of the college, as are 70
percent of the minority physicians practicing in Chicago. The college
produces more medical school faculty than all but five schools in the
country.